Other Names for this Disease
- Porphyria variegate
- Porphyria, South African type
- PPOX deficiency
- Protoporphyrinogen oxidase deficiency
What symptoms are associated with variegate porphyria?
What causes variegate porphyria?
How is variegate porphyria inherited?
How is vareigate porphyria diagnosed?
How is variegate porphyria treated?
Variegate porphyria is caused by mutations in the PPOX gene. Mutations in the PPOX gene reduce the activity of protoporphyrinogen oxidase, allowing compounds called porphyrin precursors to build up in the body. These compounds are formed during the normal process of heme production, but reduced activity of protoporphyrinogen oxidase allows them to accumulate to toxic levels. More than 130 mutations in the PPOX gene have been identified in people with variegate porphyria. A particular PPOX gene mutation is found in about 95 percent of South African families with the disorder.
Nongenetic factors such as certain drugs, alcohol, dieting, as well as other genetic factors that have not been identified, also contribute to the characteristic features of variegate porphyria.
- Variegate Porphyria (VP). American Porphyria Foundation. 2010; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/VP. Accessed 7/19/2010.
- Porphyria, Variegate. National Organization for Rare Disorders (NORD). 2001; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Porphyria%2C%20Variegate. Accessed 7/19/2010.
- Porphyria. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition=porphyria. Accessed 7/19/2010.
- PPOX. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/gene/PPOX. Accessed 7/19/2010.
- Acute Intermittent Porphyria (AIP). American Porphyria Foundation. 2010; http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/AIP. Accessed 7/19/2010.